rs67333670
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs67333670(A;A) |
| Make rs67333670(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38408943 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs67333670 |
| dbSNP (classic) | rs67333670 |
| ClinGen | rs67333670 |
| ebi | rs67333670 |
| HLI | rs67333670 |
| Exac | rs67333670 |
| Gnomad | rs67333670 |
| Varsome | rs67333670 |
| LitVar | rs67333670 |
| Map | rs67333670 |
| PheGenI | rs67333670 |
| Biobank | rs67333670 |
| 1000 genomes | rs67333670 |
| hgdp | rs67333670 |
| ensembl | rs67333670 |
| geneview | rs67333670 |
| scholar | rs67333670 |
| rs67333670 | |
| pharmgkb | rs67333670 |
| gwascentral | rs67333670 |
| openSNP | rs67333670 |
| 23andMe | rs67333670 |
| SNPshot | rs67333670 |
| SNPdbe | rs67333670 |
| MSV3d | rs67333670 |
| GWAS Ctlg | rs67333670 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs67333670(A;A) rs67333670(T;T) |
| Alt | rs67333670(A;A) rs67333670(T;T) |
| Reference | Rs67333670(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38268196C>A; NC_000023.10:g.38268196C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000083569.1, RCV000083570.1, |
[PMID 10737985] Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
